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Several studies have reported associations of germline mutations in CHEK2, especially the 1100delC mutation, with increased susceptibility to breast and prostate cancer [ 3- 8].
Also, it was shown recently that atrial myocytes from mice with long QT 3 mutation with increased late INa show greatly increased action potential duration and early afterdepolarizations, and ranolazine reduced action potential duration [ 50].
The high prevalence of katG S315T among MDR strains (12, 14, 36 – 38 ) and the association of this mutation with increased secondary case generation among isoniazid-monoresistant strains (6, 7 ) have been documented.
This phenomenon is clinically relevant, as it suggests an increased risk of radioiodine treatment failure of BRAF V600E-positive PTC, providing an explanation for the association of this mutation with increased disease recurrence and patient mortality of PTC.
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The SIFT algorithm relies upon evolutionary conservation to find mutations that have the greatest potential for negative functional impact and B-SIFT uses the same idea to find mutations with increased fitness.
In this study, we screened a library of P. aeruginosa mutant bacteria in SP-A null and sufficient mice for mutations with increased susceptibility to pulmonary clearance by SP-A.
They revealed how altered osteoblast function and deficient bone formation by each cell caused by the G610C mutation combined with increased osteoblastogenesis might make the bone more brittle, all of which are common OI features.
In fact, genetic testing is reportedly top of mind for the Kardashians; according to reports, Kim, Khloe and Kris Jenner have all been screened for BRCA1, a genetic mutation associated with increased risk of certain cancers.
Indeed, the mutation associated with increased E. histolytica susceptibility is in the extracellular domain of the leptin receptor and is present in all isoforms.
We assessed whether these four cancer-derived TRKB point mutations correspond to gain-of-function mutations associated with increased oncogenic potential.
The occurrence of dead or morphologically abnormal sperm is generally attributed to production errors during spermatogenesis [97], [98], or may result from increased replication-dependent mutations associated with increased sperm production [99] if these mutations alter sperm phenotype.
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